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内部出版物
在“
Elsevier电子期刊
”中,
命中:
35
条,耗时:小于0.01 秒
1.
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the
ATP1A3
Gene
作者:
Roderick P.P.W.M. Maas
;
MD
a
;
roderick.maas@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author
;
Jolanda H. Schieving
;
MD
b
;
Meyke Schouten
;
MD
c
;
Erik-Jan Kamsteeg
;
PhD
c
;
Bart P.C. van de Warrenburg
;
MD
;
PhD
a
关键词:
CAPOS syndrome
;
ATP1A3
gene
;
cerebellar ataxia
;
areflexia
;
pes cavus
;
optic atrophy
;
sensorineural hearing loss
刊名:Pediatric Neurology
出版年:2016
2.
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific
ATP1A3
mutation
作者:
Ana Potic
a
;
a.potic@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Bruce Nmezi
b
;
bcn6@pitt.edu" class="auth_mail" title="E-mail the corresponding author
;
Quasar S. Padiath
b
;
qpadiath@pitt.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Ataxia
;
Cerebellum
;
Migraine
;
ATP1A3
gene
;
Channelopathies
;
Episodic encephalopathy
;
Fever
刊名:Journal of the Neurological Sciences
出版年:2015
3.
Proteomic MALDI-TOF/TOF-IMS examination of peptide expression in the formalin fixed brainstem and changes in sudden infant death syndrome infants
作者:
Nicholas J. Hunt
a
;
b
;
Leo Phillips
c
;
Karen A. Waters
a
;
b
;
d
;
Rita Machaalani
a
;
b
;
d
;
rita.machaalani@sydney.edu.au" class="auth_mail" title="E-mail the corresponding author
关键词:
ABC
;
ammonium bicarbonate
;
Arc
;
arcuate nucleus
;
ATP1A3
;
sodium/potassium transporting ATPase subunit α-3
;
dH2O
;
deionised water
;
DHB
;
2
;
5-Dihydroxybenzoic acid
;
DNAH3
;
dynein heavy chain
;
DNMV
;
dorsal motor nucleus of the vagus
;
DRG
;
dorsal respiratory group
;
e-cun
;
external cuneate
;
FFPE
;
formalin fixed and paraffin embedded
;
GAPDH
;
glyceraldehyde 3-phosphate dehydrogenase
;
GFAP
;
glial fibrillary acid protein
;
Icp
;
internal capsule
;
IHC
;
immunohistochemistry
;
IMS
;
imaging mass spectrometry
;
IO
刊名:Journal of Proteomics
出版年:2016
4.
Childhood-onset
ATP1A3
-related conditions: Report of two new cases of phenotypic spectrum
作者:
Francesco Nicita
刊名:Parkinsonism & Related Disorders
出版年:2016
5.
Paroxysmal movement disorders: An update
作者:
A. Mé
;
neret
a
;
b
;
E. Roze
a
;
b
;
flamand.roze.75012@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Paroxysmal
;
Movement disorders
;
Dyskinesia
;
Episodic
;
Ataxia
;
Genetics
刊名:Revue Neurologique
出版年:2016
6.
1. Alternating hemiplegia of childhood into adulthood (AHCA): Case series and literature update
作者:
Reem Alyoubi
;
Ingrid Park
;
Joe Embuido
;
Paul Hwang
刊名:Clinical Neurophysiology
出版年:2016
7.
Hemiplej铆a alternante de la infancia: estudio del gen
ATP1A3
en 16 pacientes
作者:
Adriana Ulate-Campos
a
;
adrianaulate@hotmail.com" class="auth_mail
;
Carmen Fons
a
;
b
;
Jaume Campistol
a
;
b
;
Loreto Martorell
b
;
c
;
Ramó
;
n Cancho-Candela
d
;
Jesú
;
s Eiris
e
;
Eduardo Ló
;
pez-Laso
f
;
Mercedes Pineda
g
;
Anna Sans
a
;
Ramó
;
n Velá
;
zquez
h
关键词:
Hemiplejí
;
a alternante de la infancia
;
Gen
ATP1A3
;
Bomba de sodio-potasio de trifosfato de adenosina
刊名:Medicina Clínica
出版年:7 July 2014
8.
Alternating Hemiplegia of Childhood With a de Novo Mutation in
ATP1A3
and Changes in SLC2A1 Responsive to a Ketogenic Diet
作者:
Adriana Ulate-Campos
;
MD
a
;
aulate@hsjdbcn.org" class="auth_mail
;
Carmen Fons
;
MD
;
PhD
b
;
Rafael Artuch
;
MD
;
PhD
c
;
Esperanza Castejó
n ;
MD
d
;
Loreto Martorell
;
MD
;
PhD
e
;
Laurie Ozelius
;
MD
;
PhD
f
;
Juan Pascual
;
MD
;
PhD
g
;
Jaume Campistol
;
MD
;
PhD
b
关键词:
alternating hemiplegia of childhood
;
ATP1A3
;
GLUT1 deficiency syndrome
;
GLUT1 DS
;
SLC2A1
;
ketogenic diet
刊名:Pediatric Neurology
出版年:April, 2014
9.
A novel
ATP1A3
mutation with unique clinical presentation
作者:
Hendrik Rosewich
a
;
1
;
hendrik.rosewich@med.uni-goettingen.de" class="auth_mail
;
Martina Baethmann
b
;
1
;
M.Baethmann@dritter-orden.de" class="auth_mail
;
Andreas Ohlenbusch
a
;
aohlenb@gwdg.de" class="auth_mail
;
Jutta Gä
;
rtner
a
;
gaertnj@med.uni-goettingen.de" class="auth_mail
;
Knut Brockmann
c
;
kbrock@med.uni-goettingen.de" class="auth_mail
关键词:
Rapid-onset dystonia-parkinsonism
;
Alternating hemiplegia of childhood
;
ATP1A3
;
Paroxysmal flaccidity
;
Eye closure
;
Episodic weakness
刊名:Journal of the Neurological Sciences
出版年:15 June 2014
10.
Distinct neurological disorders with
ATP1A3
mutations
作者:
Dr Erin L Heinzen
;
PhD
a
;
b
;
e.heinzen@duke.edu" class="auth_mail
;
Alexis Arzimanoglou
;
MD
f
;
g
;
Prof Allison Brashear
;
MD
h
;
Steven J Clapcote
;
PhD
i
;
Prof Fiorella Gurrieri
;
PhD
j
;
Prof David B Goldstein
;
PhD
a
;
c
;
Sigurð
;
ur H Jó
;
hannesson
k
;
Prof Mohamad A Mikati
;
MD
d
;
e
;
Prof Brian Neville
;
MB BS
l
;
Sophie Nicole
;
PhD
m
;
n
;
o
;
Laurie J Ozelius
;
PhD
p
;
Hanne Poulsen
;
PhD
q
;
r
;
Tsveta Schyns
;
PhD
s
;
Kathleen J Sweadner
;
PhD
t
;
Prof Arn van den Maagdenberg
;
PhD
u
;
Prof Bente Vilsen
;
DMSc
v
;
for the
ATP1A3
Working Group
刊名:Lancet Neurology
出版年:May, 2014
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